Living with hereditary cancer. The experiences of Swedish MEN1 patients and Norwegian BRCA1/2 mutation positive men

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Abstract

Background:
During the past two decades there has been an increasingly focus on cancer risk
reduction using genetic tests and family history to identify persons with increased risk
of developing cancer. Depending on the genetic condition, persons at significantly
increased risk may be identified and then enrolled into long term surveillance
programs. This is the case for patients with Multiple Endocrine Neoplasia type
1(MEN1) where nearly 100% develop symptoms. Others may be identified as having
a slightly increased cancer risk, but no management strategies are made available for
them. This is the current clinical practice for Norwegian men identified with a
mutation in breast cancer gene 1(BRCA1) or breast cancer gene 2 (BRCA2). Limited
research interest has been paid to researching the psychosocial issues of these patient
groups, the MEN1 patients and men with BRCA1/2 mutations.
Aims:
The overall aim of this thesis is to explore and describe the experiences of two patient
groups living with high and slightly increased risk for hereditary cancer.
Material and methods:
Qualitative semi-structured interviews had been performed with 29 MEN1 patients
recruited through a specialty clinic in Sweden (Study 1). The data were analyzed in
line with Georgi’s phenomenological method. To learn about male experiences in
hereditary breast and ovarian cancer syndrome (HBOC) families, a systematic review
of existing psychosocial research on this topic was performed, and a thematic
analysis was utilized (Study 2). Further, 15 BRCA1/2 mutation positive men
participated in two successive in-depth interviews, and seven female partners
participated in the second interview (Study 3). These participants were recruited
through two departments of Clinical Genetics in Norway. A phenomenological lifeworld approach was utilized, and the in-depth interviews were analyzed using
Georgi’s phenomenological method.
Results:
The MEN1 patients with high increased risk described mixed feelings about the
clinical follow-up program. They experienced decent care from their health care
providers but they still had unmet informational needs. Their genetic condition was
associated with pain, job insecurity and feelings of guilt towards their children. They
also experienced short-term perspective in future planning due to fears that their
condition might worsen. However, they had adjusted to their situation and described a
change in their priorities and values. They also defined themselves as healthy.
A review of the literature regarding men in hereditary breast and ovarian cancer
(HBOC) families describes women as playing the leading role in communicating
genetic information in the family. Men`s decision to seek genetic counseling and
testing is said to be out of family duty or as an obligation to their children. Men are
described as suffering from intrusive feelings due to unresolved grief and to use
avoidance as a coping strategy. Previous reports describe men’s feelings of guilt
towards their children and other family members. Men`s genetic test results may have
an impact on familial relationships and reproductive decisions.
The Norwegian men identified as BRCA1/2 mutation positive experienced strong
emotional reactions after disclosure of their test results including fear of developing
cancer. The men also felt responsible for other family members’ health, and described
an unmet need of risk information regarding their own and relatives’ potential cancer
risk. Due to fear of being stigmatized most participants felt it important to keep the
genetic information private. Many had not informed their children about the family
mutation mainly because of their young age, or because they knew that their offspring
were struggling with difficult life events. Participants also considered it difficult to
discuss their test results or health related information with other males, and they
perceived females as their social and emotional support. Conclusion:
People’s feelings and understanding of genetic risk does not seem to depend on the
numeric risk estimate. The results from this study pinpoint the need for counseling
and follow-up strategies for both MEN1 patients and for male BRCA1/2 mutation
carriers.
Health care providers may have an impact on how these patients deal with their
condition, and the patients may also profit from closer contact with community health
care. There is also a need for future research regarding the psychosocial issues for
MEN1 patients and BRCA1/2 mutation positive men.

Has part(s)

Paper I: Journal of Genetic Counseling 16(1), Strømsvik, N.; Nordin, K.; Berglund, G.; Engebretsen, L. F.; Hansson, M. G.; Gjengedal, E., Living with Multiple Endocrine Neoplasia Type 1: Decent Care-Insufficient Medical and Genetic Information. A Qualitative Study of MEN1 Patients in a Swedish Hospital, pp. 105-117. Copyright 2007 National Society of Genetic Counselors. Published by Springer. Full text not available in BORA due to publisher restrictions. The published version is available at: http://dx.doi.org/10.1007/s10897-006-9047-2

Paper II: Familial Cancer 8(3), Strømsvik, N.; Råheim, M.; Øyen, N.; Gjengedal, E., Men in the women’s world of hereditary breast and ovarian cancer—a systematic review, pp. 221-229. Copyright 2009 Springer. Full text not available in BORA due to publisher restrictions. The published version is available at: http://dx.doi.org/10.1007/s10689-009-9232-1

Paper III: Journal of Genetic Counseling 19(4), Strømsvik, N.; Råheim, M.; Øyen, N.; Engebretsen, L. F.; Gjengedal, E., Stigmatization and male identity: Norwegian males’ experience after identification as BRCA1/2 mutation carriers, pp 360-370. Copyright 2010 National Society of Genetic Counselors. Published by Springer. Full text not available in BORA due to publisher restrictions. The published version is available at: http://dx.doi.org/10.1007/s10897-010-9293-1